Comparison of recent pivotal recommendations for the diagnosis and treatment of late-onset Pompe disease using diagnostic nodes-the Pompe disease burden scale.

Hundsberger, Thomas; Schoser, Benedikt; Leupold, Daniela; Rösler, Kai Michael; Putora, Paul Martin (2019). Comparison of recent pivotal recommendations for the diagnosis and treatment of late-onset Pompe disease using diagnostic nodes-the Pompe disease burden scale. Journal of neurology, 266(8), pp. 2010-2017. Springer-Medizin-Verlag 10.1007/s00415-019-09373-2

[img] Text
Hundsberger2019_Article_ComparisonOfRecentPivotalRecom.pdf - Published Version
Restricted to registered users only until 19 May 2023.
Available under License Publisher holds Copyright.

Download (909kB) | Request a copy

Pompe disease is a rare autosomal-recessive disorder characterised by limb-girdle myopathy and respiratory weakness in the late-onset form (LOPD). Various mutations in the acid alpha-glucosidase gene lead to toxic lysosomal and extra-lysosomal glycogen accumulation in all organs due to ineffective glycogen clearance by the encoded enzyme. Only one randomized trial demonstrated beneficial effects of respiratory function and meters walked in the 6-min walking test with enzyme replacement therapy (ERT). These results were confirmed in several retrospective and prospective observations and in meta-analyses. Due to a potential lifelong therapy, moderate efficacy and high treatment costs time of ERT initiation and cessation is an ongoing matter of debate. So far, several national and international recommendations have been published with different criteria concerning diagnosis, initiation and cessation of ERT in LOPD. We therefore formally analysed recent published recommendations and consensus statements of LOPD using diagnostic nodes (DODES) as a special software tool. With DODES, an objective analysis becomes possible if the content of the recommendations is represented as algorithms using cross-compatible elements. This analysis formally disclosed both, areas of great heterogeneity and concordance for the diagnosis and management of LOPD and paved the way for a Pompe disease burden scale focussing on ERT initiation. According to this investigation further clinical research should concentrate on ERT in pre-symptomatic and severely affected LOPD patients and on cessation criteria for ERT as these issues are areas of international uncertainty and discordance.

Item Type:

Journal Article (Original Article)

Division/Institute:

04 Faculty of Medicine > Department of Head Organs and Neurology (DKNS) > Clinic of Neurology
04 Faculty of Medicine > Department of Haematology, Oncology, Infectious Diseases, Laboratory Medicine and Hospital Pharmacy (DOLS) > Clinic of Radiation Oncology

UniBE Contributor:

Rösler, Kai Michael and Putora, Paul Martin

Subjects:

600 Technology > 610 Medicine & health

ISSN:

0340-5354

Publisher:

Springer-Medizin-Verlag

Language:

English

Submitter:

Beatrice Scheidegger

Date Deposited:

17 Jul 2019 15:09

Last Modified:

23 Oct 2019 15:54

Publisher DOI:

10.1007/s00415-019-09373-2

PubMed ID:

31104135

Uncontrolled Keywords:

Diagnostic nodes ERT cessation ERT initiation Enzyme replacement therapy Guidelines Pompe disease

BORIS DOI:

10.7892/boris.131134

URI:

https://boris.unibe.ch/id/eprint/131134

Actions (login required)

Edit item Edit item
Provide Feedback